ZFIN ID: ZDB-GENE-040426-2704
Gene Name: mucolipin 1a
Gene Symbol: mcoln1a    Nomenclature History

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Previous Names: mcoln1.1 (1), mcoln1, zgc:63619 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 1 Mapping Details/Browsers
Description: Predicted to have NAADP-sensitive calcium-release channel activity. Involved in several processes, including neuromast hair cell development; regulation of late endosome to lysosome transport; and retina homeostasis. Localizes to late endosome and lysosome. Is expressed in several structures, including intermediate cell mass of mesoderm; nervous system; pleuroperitoneal region; yolk; and yolk syncytial layer. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin 1).
Genome Resources: Alliance (1),  Gene:406689 (1),  Ensembl(GRCz11):ENSDARG00000002285 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
hg82 Indel Exon 4 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
hg83 Small Deletion Exon 4 Frameshift, Premature Stop ZINC_FINGER_NUCLEASE
hkz13 Point Mutation Unknown Missense
la010689Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la013688Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa8964 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • DISEASE ASSOCIATED WITH mcoln1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    mucolipidosis type IV Alliance Mucolipidosis IV 252650
    DISEASE ASSOCIATED WITH mcoln1a VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    mucolipidosis type IV mcoln1ahkz13/hkz13 standard conditions Jin et al., 2019
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process autophagy (more)
    Cellular Component late endosome (more)
    Molecular Function cation channel activity (more)
    GO Terms (all 12)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA mcoln1a-201 (1)    Ensembl 5620
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM mcoln1a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    tg(coro1a:mcoln1a) coro1a mcoln1a Danio rerio 1 1
    tg(elavl3:mcoln1a) elavl3 mcoln1a Danio rerio 1 1
    MARKER RELATIONSHIPS
    mcoln1a Contained in: [BAC] CH211-214C7 (1)
    mcoln1a Encodes: [cDNA] MGC:63619 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_213380 (1) 1397 nt
    Genomic GenBank:BX511120 (1) 204893 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A2BGV1 (1) 581 aa
    Sequence Information (all 11)
    ORTHOLOGY for mcoln1a ( Chr: 1 )
    CITATIONS (30)